View clinical trials related to Pseudoxanthoma Elasticum.
Filter by:The goal of this randomized clinical trial is to assess the effect of etidronate on ectopic calcification in relatively young patients with Pseudoxanthoma elasticum. The main question it aims to answer are: What is the difference in the arterial calcification scores in the legs and the carotid syphon measured on low-dose CT scan after 24 months of treatment compared to baseline between etidronate and placebo. Participants will be asked to do take etidronate or placebo for 24 months.
The primary purpose of Study INZ701-104 (the ENERGY study) is to assess the safety and tolerability of INZ-701 in infants with ENPP1 Deficiency or with ABCC6 Deficiency.
This study aims to systematically assess the retest reliability and ability to detect a change of new visual function tests and ophthalmological imaging methods for observing the natural course of pseudoxanthoma elasticum (PXE).
Pseudoxanthoma elasticum (PXE) is a rare inherited metabolic disorder (OMIM 264800, frequency 1/25000) characterized by progressive ectopic calcification of connective tissues. PXE mainly affects the skin (inesthetic papules and plaques in the skin folds), the retina (central blindness), the vasculature (peripheral arterial occlusive disease and stroke) and the renal system (renal lithiasis) in adulthood. Although rarely, early lethal forms have been reported. This chronic and highly disabling condition results from a loss of function of the gene encoding for the ABCC6 membrane transporter primarily expressed in the hepatocytes and renal tubular cells. Recently, it has been reported that PXE was characterized by a 50-60% decrease in the plasma level of inorganic pyrophosphate (PPi), a major physiological anti-calcifying factor. PXE is an incurable disease which therapeutic options are limited to symptomatic treatments to stem the devastating effect of the ectopic calcifications. Recently, encouraging proof of concept studies with animals PXE models and healthy volunteers have shown that, contrary to what was initially reported and thought, the oral administration of PPi salts are able to increase PPi plasma levels, opening up new therapeutic perspectives in PXE. Therefore, we propose to perform the first Phase II randomized controlled trial (RCT) to evaluate the safety and efficacy of a daily and oral administration of PPi salts against placebo in PXE patients.
Protocol code and version: FIM-PXE-2016-01 Version 1.4 Trial title: "Response to oral lansoprazole of inorganic pyrophosphate levels in patients with Grönblad- Stranberg disease (Pseudoxanthoma Elasticum)" Trial design: Double-blind, placebo-controlled, randomised, two-stage crossover clinical trial, with each patient serving as their own control and reducing the number of patients to confirm our hypothesis. Principal Investigator: Dr. Pedro Valdivielso Felices Participating centres Virgen de la Victoria's Universitary Hospital in Malaga and Virgen de la Macarena's Universitary Hospital in Seville. Duration of the trial: 12 months Expected start date: December 2019 Objectives: Principal:To verify the changes in plasma PPi, and the main molecules that regulate it (NPP1-3, TNAP) after oral administration of lansoprazole in patients diagnosed with PXE. Description of treatment: Selection:20 patients who meet all the criteria for inclusion and none for exclusion. Randomisation and 1st stage: Patients will receive lansoprazole 30mg/day or their placebo for 8 weeks. Wash-out: After 8 weeks, all treatment will be suspended for 15 days. 2nd stage (crossed): Treatment is crossed, each patient serves as his or her own control. Evaluation variables: 1. Date of Birth 2. Sex. 3. Physical examination (anthropometry and vital signs) 4. Date of first symptom. 5. Date of final diagnosis 6. Ocular affectation (orange peel skin, complete striae angioides, lucentis, corrected visual acuity, cataracts, intraocular pressure, fundus (vascular flow, optic nerve drusen, retinal atrophy, neovascular membranes, macular thickness, colloid thickness). 7. Skin affectation (yellowish papules or plaques on the side of the neck or other areas of flexure and lax skin). 8. Vascular affectation (intermittent claudication clinic, angina and/or episode of acute myocardial infarction and/or non-embolic ischemic stroke, surgical or percutaneous revascularisation, cardiac murmur,10.) 9. History of renal lithiasis, arterial hypertension, diabetes mellitus, treatments, smoking and dyslipidemia. 10. Specific biochemical variables: Inorganic pyrophosphate (IPP) NPP1 and NPP2.3: activity and mass concentration of the enzyme Non-specific tissue alkaline phosphatase (NTAP) and PHA. Osteocalcin: To check possible side effects on bone metabolism. 5'-Nucleotidas General analytical parameters (haemoglobin, haematocrit, MVC, MHC, platelets, neutrophils, prothrombin activity, TPTA, thrombin time, ferritin, PCR, glycaemia, urea, creatinine, cholesterol, triglycerides, HDL cholesterol, LDL cholesterol, uric acid, calcium, phosphorus, alkaline phosphatase, PTH). By means of routine clinical laboratory techniques. Number of patients: TOTAL : 20 patients(Competitive recruitment)
This study aims to demonstrate a potential association between gut microbiota composition, plasma levels of various forms of vitamin K, and severity of clinical manifestations of Pseudoxanthoma Elasticum (PXE).
Generalized arterial calcification of infancy (GACI) is an ultra-rare disorder with an estimated birth prevalence of around 1 in 400,000.1 GACI is generally fatal before birth or within the first six months after birth. The cause of death is frequently myocardial infarction or stroke. GACI is strongly associated with inactivating mutations in ectonucleotide pyrophosphate/ phosphodiesterase 1 (ENPP1). Many patients with GACI, including some without an ENPP1 mutation also present with mutations in adenosine triphosphate binding cassette transporter protein subfamily C member 6 (ABCC6). Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) and pseudoxanthoma elasticum (PXE) are believed to be closely related to GACI. ARHR2 is caused by mutations in the ENPP1 gene and PXE is caused by mutations in the ABCC6 gene, with both being observed among patients with GACI. The natural history of GACI and in particular its long term morbidity and mortality are poorly understood. The primary objective of this study is to characterize overall survival among patients with GACI, over time from birth.
Quantification and preferential sites of arterial wall calcification within the coronary and lower legs arteries will be comared between Pseudo-Xanthoma elasticum(PXE) atients and type 2 diabetics and Chronic Kidney disease.
The cohort is intended to study the phenotypic expressions of the pseudoxanthoma elasticum (PXE) disease in various tissues (eye, skin, arteries, etc).